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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-43451974-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43451974&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HYI",
"hgnc_id": 26948,
"hgvs_c": "c.541A>G",
"hgvs_p": "p.Ile181Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001330526.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "SZT2",
"hgnc_id": 29040,
"hgvs_c": "c.*1494T>C",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001365999.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1004,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04596230387687683,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 277,
"aa_ref": "I",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1221,
"cdna_start": 604,
"cds_end": null,
"cds_length": 834,
"cds_start": 466,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001190880.3",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ile156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372430.9",
"protein_coding": true,
"protein_id": "NP_001177809.1",
"strand": false,
"transcript": "NM_001190880.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 277,
"aa_ref": "I",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1221,
"cdna_start": 604,
"cds_end": null,
"cds_length": 834,
"cds_start": 466,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000372430.9",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ile156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001190880.3",
"protein_coding": true,
"protein_id": "ENSP00000361507.4",
"strand": false,
"transcript": "ENST00000372430.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 247,
"aa_ref": "I",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1066,
"cdna_start": 636,
"cds_end": null,
"cds_length": 744,
"cds_start": 466,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000372432.5",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ile156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361509.1",
"strand": false,
"transcript": "ENST00000372432.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3432,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14136,
"cdna_start": null,
"cds_end": null,
"cds_length": 10299,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 72,
"exon_rank": 72,
"exon_rank_end": null,
"feature": "NM_001365999.1",
"gene_hgnc_id": 29040,
"gene_symbol": "SZT2",
"hgvs_c": "c.*1494T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000634258.3",
"protein_coding": true,
"protein_id": "NP_001352928.1",
"strand": true,
"transcript": "NM_001365999.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3432,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14136,
"cdna_start": null,
"cds_end": null,
"cds_length": 10299,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 72,
"exon_rank": 72,
"exon_rank_end": null,
"feature": "ENST00000634258.3",
"gene_hgnc_id": 29040,
"gene_symbol": "SZT2",
"hgvs_c": "c.*1494T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001365999.1",
"protein_coding": true,
"protein_id": "ENSP00000489255.1",
"strand": true,
"transcript": "ENST00000634258.3",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 311,
"aa_ref": "I",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 753,
"cds_end": null,
"cds_length": 936,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000895725.1",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565784.1",
"strand": false,
"transcript": "ENST00000895725.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 302,
"aa_ref": "I",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1296,
"cdna_start": 679,
"cds_end": null,
"cds_length": 909,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001330526.2",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.541A>G",
"hgvs_p": "p.Ile181Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317455.1",
"strand": false,
"transcript": "NM_001330526.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 302,
"aa_ref": "I",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1025,
"cdna_start": 573,
"cds_end": null,
"cds_length": 909,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000372434.5",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.541A>G",
"hgvs_p": "p.Ile181Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361511.1",
"strand": false,
"transcript": "ENST00000372434.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 301,
"aa_ref": "I",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1008,
"cdna_start": 562,
"cds_end": null,
"cds_length": 906,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000895729.1",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.538A>G",
"hgvs_p": "p.Ile180Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565788.1",
"strand": false,
"transcript": "ENST00000895729.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1087,
"cdna_start": 657,
"cds_end": null,
"cds_length": 888,
"cds_start": 541,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000895727.1",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.541A>G",
"hgvs_p": "p.Ile181Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565786.1",
"strand": false,
"transcript": "ENST00000895727.1",
"transcript_support_level": null
},
{
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"aa_length": 277,
"aa_ref": "I",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1604,
"cdna_start": 605,
"cds_end": null,
"cds_length": 834,
"cds_start": 466,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895723.1",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ile156Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565782.1",
"strand": false,
"transcript": "ENST00000895723.1",
"transcript_support_level": null
},
{
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"aa_length": 276,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 905,
"cdna_start": 521,
"cds_end": null,
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000486909.1",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.466A>G",
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"protein_coding": true,
"protein_id": "ENSP00000428399.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 582,
"cds_end": null,
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000895728.1",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ile156Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565787.1",
"strand": false,
"transcript": "ENST00000895728.1",
"transcript_support_level": null
},
{
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"aa_length": 276,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 474,
"cds_end": null,
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"cds_start": 463,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895731.1",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Ile155Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000565790.1",
"strand": false,
"transcript": "ENST00000895731.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1059,
"cdna_start": 615,
"cds_end": null,
"cds_length": 831,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000965724.1",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.463A>G",
"hgvs_p": "p.Ile155Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635783.1",
"strand": false,
"transcript": "ENST00000965724.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 272,
"aa_ref": "I",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1278,
"cdna_start": 679,
"cds_end": null,
"cds_length": 819,
"cds_start": 541,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001243526.2",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.541A>G",
"hgvs_p": "p.Ile181Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230455.1",
"strand": false,
"transcript": "NM_001243526.2",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_start": 737,
"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000583037.5",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.541A>G",
"hgvs_p": "p.Ile181Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000461969.2",
"strand": false,
"transcript": "ENST00000583037.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
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"aa_ref": "I",
"aa_start": 156,
"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1064,
"cdna_start": 479,
"cds_end": null,
"cds_length": 816,
"cds_start": 466,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895726.1",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ile156Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565785.1",
"strand": false,
"transcript": "ENST00000895726.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 912,
"cdna_start": 479,
"cds_end": null,
"cds_length": 813,
"cds_start": 466,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895730.1",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.466A>G",
"hgvs_p": "p.Ile156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565789.1",
"strand": false,
"transcript": "ENST00000895730.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 268,
"aa_ref": "I",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": 645,
"cds_end": null,
"cds_length": 807,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895724.1",
"gene_hgnc_id": 26948,
"gene_symbol": "HYI",
"hgvs_c": "c.439A>G",
"hgvs_p": "p.Ile147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565783.1",
"strand": false,
"transcript": "ENST00000895724.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 247,
"aa_ref": "I",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1203,
"cdna_start": 604,
"cds_end": null,
"cds_length": 744,
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